Xeroderma Pigmentosum, Complementation Group D (XPD)
[Edit]CXPD; BTF2 p80; EM9; TTD; ERCC2; TFIIH basal transcription factor complex 80 kDa; De Sanctis-Cacchione; Excision Repair Cross-Complementing Rodent Repair Deficiency 2
ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome.
Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity. It belongs to the RAD3/XPD subfamily of helicases.XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPC013Hu01 | Recombinant Xeroderma Pigmentosum, Complementation Group D (XPD) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAC013Hu01 | Polyclonal Antibody to Xeroderma Pigmentosum, Complementation Group D (XPD) | WB; IHC; ICC; IP. |
Assay Kits | SEC013Hu | ELISA Kit for Xeroderma Pigmentosum, Complementation Group D (XPD) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Xeroderma Pigmentosum, Complementation Group D (XPD) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Xeroderma Pigmentosum, Complementation Group D (XPD) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Xeroderma Pigmentosum, Complementation Group D (XPD) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Xeroderma Pigmentosum, Complementation Group D (XPD) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Xeroderma Pigmentosum, Complementation Group D (XPD) | ELISA Kit Customized Service Offer |
- "ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3."EMBO J. 9:1437-1447(1990) [PubMed] [Europe PMC] [Abstract]
- "Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes."Genomics 34:399-409(1996) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene."Proc. Natl. Acad. Sci. U.S.A. 89:261-265(1992) [PubMed] [Europe PMC] [Abstract]
- "Human Xeroderma pigmentosum group D gene encodes a DNA helicase."Nature 365:852-855(1993) [PubMed] [Europe PMC] [Abstract]
- "The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2."Proc. Natl. Acad. Sci. U.S.A. 92:3259-3263(1995) [PubMed] [Europe PMC] [Abstract]
- "Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes."J. Biol. Chem. 273:34444-34453(1998) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH."Nat. Genet. 20:184-188(1998) [PubMed] [Europe PMC] [Abstract]
- "Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7."Mol. Cell 3:87-95(1999) [PubMed] [Europe PMC] [Abstract]
- "Selective regulation of vitamin D receptor-responsive genes by TFIIH."Mol. Cell 16:187-197(2004) [PubMed] [Europe PMC] [Abstract]
- "Identification and Herc5-mediated ISGylation of novel target proteins."Biochem. Biophys. Res. Commun. 348:473-477(2006) [PubMed] [Europe PMC] [Abstract]
- "MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity."J. Biol. Chem. 284:5165-5174(2009) [PubMed] [Europe PMC] [Abstract]
- "MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation."Mol. Cell 39:632-640(2010) [PubMed] [Europe PMC] [Abstract]
- "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
- "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism."Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract]
- "Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene."Hum. Mol. Genet. 3:1783-1788(1994) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy."Nat. Genet. 7:189-194(1994) [PubMed] [Europe PMC] [Abstract]
- "Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome."Am. J. Hum. Genet. 56:167-174(1995) [PubMed] [Europe PMC] [Abstract]
- "Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D."Cancer Res. 55:5656-5663(1995) [PubMed] [Europe PMC] [Abstract]
- "Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy."Am. J. Hum. Genet. 58:263-270(1996) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms."Hum. Mutat. 9:322-331(1997) [PubMed] [Europe PMC] [Abstract]
- "DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient."Hum. Mutat. 9:519-525(1997) [PubMed] [Europe PMC] [Abstract]
- "Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene."Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997) [PubMed] [Europe PMC] [Abstract]
- "Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity."Am. J. Hum. Genet. 63:1036-1048(1998) [PubMed] [Europe PMC] [Abstract]
- "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]
- "Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy."Am. J. Hum. Genet. 69:291-300(2001) [PubMed] [Europe PMC] [Abstract]
- "Associations between ercc2 polymorphisms and gliomas."Cancer Epidemiol. Biomarkers Prev. 10:355-360(2001) [PubMed] [Europe PMC] [Abstract]
- "Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients."Cancer Res. 61:1354-1357(2001) [PubMed] [Europe PMC] [Abstract]
- "XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ."Carcinogenesis 22:1185-1188(2001) [PubMed] [Europe PMC] [Abstract]
- "The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases."Genes Dev. 15:15-23(2001) [PubMed] [Europe PMC] [Abstract]
- "Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene."Hum. Mol. Genet. 10:2539-2547(2001) [PubMed] [Europe PMC] [Abstract]
- "A temperature-sensitive disorder in basal transcription and DNA repair in humans."Nat. Genet. 27:299-303(2001) [PubMed] [Europe PMC] [Abstract]